T154N (p.Thr154Asn) variant of GJA1 (Gap junction alpha-1 protein)
T154N (p.Thr154Asn) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Oculodentodigital dysplasia, autosomal recessive. The record also includes published literature and structural context.
T154N (p.Thr154Asn) variant details
- p.Thr154Asn
- rs2536821904
- ClinGen CA365559061
- ClinVar RCV003037185
- UniProt VAR 059006
- Likely pathogenic
- Oculodentodigital dysplasia, autosomal recessive
- Missense
- ClinVar: Likely pathogenic (Oculodentodigital dysplasia, autosomal recessive)
- EBI: Pathogenic (in ODDD)
- UniProt: Pathogenic (in ODDD)
- Structural context available
- Cited in: Clinical and genetic variability of oculodentodigital dysplasia. (PMID 16813608)
- Cited in: A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital… (PMID 16816024)